Research Paper: 

2018 Khalid

Date Published : 

01/30/2018

Summary

COL4A1 and fetal vascular origins of schizencephaly

Excerpt

Classically described by Yakovlev and Wadsworth1 in 1946, schizencephaly is a rare congenital brain malformation characterized by clefts of the cerebral mantle extending from the pial surface to lateral ventricles lined by heterotopic gray matter. Observed associations between schizencephaly and in utero infections, trauma, fetal exposure to teratogens, and death of a monozygotic twin support the hypothesis that schizencephaly is the consequence of fetal vascular disruption during the late first or early secondary trimester of pregnancy.2
Recent reports have identified COL4A1 gene mutations in as many as 50% of patients with schizencephaly.3 Collagen α-1 (IV) is a member of the type IV collagen family that comprises the major structural component of basement membranes that line the endothelial layer of blood vessels.4 First described by Gould et al.5 in 2005 as a cause of perinatal cerebral hemorrhage in mice, COL4A1 mutations in humans can present with a wide range of phenotypes with disease onset as early as in the fetal period.4
We report a rare case demonstrating the sequential development of schizencephaly on MRI from an in utero acute focal vascular event.

COL4A1 and fetal vascular origins of schizencephaly
Download

Gould Syndrome Foundation

We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes.
Gould Syndrome Foundation badge
© Copyright 2021by Gould Syndrome Foundation - Website by Selser Media